The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat model

The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat model

A Chinese family was identified to have two patients with rickets, an adult female and a male child (proband), both exhibiting signs related to X-linked hypophosphatemic rickets (XLH). Gene sequencing analysis revealed a deletion of adenine at position 1985 (c.1985delA) in the PHEX-encoding gene. To...

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Bibliographic Details
Main Authors: Xiaoming Chen, Cijing Cai, Shaocong Lun, Qiuli Ye, Weiyuan Pan, Yushi Chen, Yuexuan Wu, Taoshan Feng, Faming Su, Choudi Ma, Jiaxin Luo, Meilian Liu, Guoda Ma
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Endocrinology
Subjects:
X-linked hypophosphatemic rickets
genotype-phenotype
PHEX gene
gene mutation
FGF23
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1251718/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2023.1251718/full

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